Clinical Variability of GLUT1DS

Anastasia Martinez-Esteve Melnikova; Christian M Korff

doi:10.15844/pedneurbriefs-29-2-5

Clinical Variability of GLUT1DS

Pediatric Neurology Briefs

Volume 29 (2015): Issue 2

By: Anastasia Martinez-Esteve Melnikova and Christian M Korff

Open Access

|Feb 2015

Abstract

Investigators from Pavia, Rho, Brescia and Milan, Italy, studied 22 patients diagnosed with GLUT1 deficiency syndrome (GLUT1DS) to document clinical or genetic differences between patients with familial SLC2A1 gene mutations (n=11) and those with sporadic mutations (n=11).

References

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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-29-2-5 | Journal eISSN: 2166-6482

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Language: English

Page range: 14 - 14

Submitted on: Feb 5, 2015

Accepted on: Feb 10, 2015

Published on: Feb 25, 2015

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Epilepsy,

GLUT1 deficiency syndrome,

Ketogenic diet,

Paroxysmal exercise-induced dyskinesia,

SLC2A1 gene

© 2015 Anastasia Martinez-Esteve Melnikova, Christian M Korff, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 29 (2015): Issue 2